Canonical Allele Identifier: CA597904990

Gene: OTOG

Linked Data

• dbSNP Id: rs1210982882
• gnomAD v2: 11-17633914-C-A
• MyVariant Identifiers: chr11:g.17633914C>A (hg19) ; chr11:g.17612367C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17612367C>A , CM000673.2:g.17612367C>A	GRCh38
NC_000011.9:g.17633914C>A , CM000673.1:g.17633914C>A	GRCh37
NC_000011.8:g.17590490C>A	NCBI36
NG_033191.1:g.69995C>A
NG_033191.2:g.69995C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399391.7:c.6328+37C>A	ENSP00000382323.2:n.6328+37C>A
ENST00000399397.6:c.6292+37C>A MANE Select	ENSP00000382329.2:n.6292+37C>A
ENST00000342528.2:c.3346+37C>A	ENSP00000341666.2:n.3346+37C>A
ENST00000399391.6:c.6328+37C>A	ENSP00000382323.2:n.6328+37C>A
ENST00000399397.5:c.6292+37C>A	ENSP00000382329.2:n.6292+37C>A
NM_001277269.1:c.6328+37C>A	NP_001264198.1:n.6328+37C>A
NM_001292063.1:c.6292+37C>A	NP_001278992.1:n.6292+37C>A
NM_001277269.2:c.6328+37C>A	NP_001264198.1:n.6328+37C>A
NM_001292063.2:c.6292+37C>A MANE Select	NP_001278992.1:n.6292+37C>A